Delayed Diagnoses of SGCE Myoclonus-Dystonia.

ABSTRACT:

Background

Myoclonus-dystonia due to SGCE mutations (OMIM: 159900) most commonly presents during childhood with mainly upper body myoclonus, and mild dystonia affecting the neck and arms.

Case reports

Herein, we report patients misdiagnosed during childhood with Tourette syndrome and dyskinetic cerebral palsy, and, during adulthood, found to harbor SGCE frameshift mutations.

Discussion

Myoclonus-dystonia may be underdiagnosed due to phenotypic misclassification during childhood. SGCE mutations should be included in the differential diagnosis of childhood movement disorders that ostensibly manifest with tics, myoclonus, or abnormal posturing secondary to dystonia and/or spasticity.

Highlights

Due to pleiotropy, variable penetrance, broad dif

SUBMITTER: Varga MG 

PROVIDER: S-EPMC7394200 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature